Ductal plate malformation

Gene: BBS7

No list

BBS7 (Bardet-Biedl syndrome 7)
EnsemblGeneIds (GRCh38): ENSG00000138686
EnsemblGeneIds (GRCh37): ENSG00000138686
OMIM: 607590, Gene2Phenotype
BBS7 is in 20 panels

0 reviews

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: BBS7.

30 Nov 2018, Gel status: 0

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ivone Leong: Demoted from red to amber as i

12 Nov 2018, Gel status: 0

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Removed was added to BBS7. Rating Changed from Green List (high evidence) to No List (delete)

6 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: BBS7 was added gene: BBS7 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS7 were set to Bardet-Biedl syndrome 7 (615984)